Gene

dennd5a

ID

ZDB-GENE-071211-1

Name

DENN/MADD domain containing 5A

Symbol

dennd5a Nomenclature History

Previous Names

rab6ip1

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 49. Orthologous to human DENND5A (DENN domain containing 5A).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Yang et al., 2021
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dennd5a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 49	Alliance	Developmental and epileptic encephalopathy 49	617281

Associated With dennd5a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001024	PLAT/LH2 domain
Domain	IPR001194	cDENN domain
Domain	IPR004012	RUN domain
Domain	IPR005112	dDENN domain
Domain	IPR005113	uDENN domain
Domain	IPR037516	Tripartite DENN domain
Domain	IPR047277	DENN domain-containing protein 5A/B, PLAT/LH2 domain
Domain	IPR047294	DENN domain-containing protein 5A, first RUN domain
Family	IPR047278	DENN domain-containing protein 5A/B
Homologous_superfamily	IPR036392	PLAT/LH2 domain superfamily
Homologous_superfamily	IPR037213	RUN domain superfamily
Homologous_superfamily	IPR043153	DENN domain, C-terminal lobe

Domain Details Per Protein

Protein	Length	cDENN domain	dDENN domain	DENN domain-containing protein 5A/B	DENN domain-containing protein 5A/B, PLAT/LH2 domain	DENN domain-containing protein 5A, first RUN domain	DENN domain, C-terminal lobe	PLAT/LH2 domain	PLAT/LH2 domain superfamily	RUN domain	RUN domain superfamily	Tripartite DENN domain	uDENN domain
UniProtKB:A0A8M3AUQ3 InterPro	1299
UniProtKB:E7F1J4 InterPro	1288
UniProtKB:A0A2R8QFR0 InterPro	1264
UniProtKB:A0A8M3B1L1 InterPro	1323

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	dennd5a-201 (1) Ensembl	Ensembl		4,094 nt	Select Tool ZFIN BLAST
mRNA	dennd5a-202 (1) Ensembl	Ensembl		4,022 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations